A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases (NCT01417533) | Clinical Trial Compass
CompletedNot Applicable
A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
United States78 participantsStarted 2011-09-14
Plain-language summary
Background:
\- GNE Myopathy is a disease that causes walking difficulties and increasing muscle weakness. It usually develops in young adults (between 20 and 30 years of age), and affects arm and leg muscles. HIBM is caused by mutations in a gene that may affect how the muscles function. Researchers want to learn more about the causes, symptoms, and effects of HIBM.
Objectives:
\- To collect genetic and medical information from people with GNE Myopathy .
Eligibility:
\- Individuals between 18 and 80 years of age who have GNE Myopathy and do not use a wheelchair. - Participants must be willing to stop any current treatment of HIBM while enrolled in the study.
Design:
* Participants will be screened with a medical history, physical exam, and neurological exam.
* At the first visit, participants will have the following tests:
* Questionnaires about the impact of HIBM on daily activities, mood, and quality of life
* 24-hour urine collection
* Blood samples
* Heart function tests
* Muscle strength and endurance tests, including walking
* Imaging study of the muscles
* Participants will return for followup visits at 6, 12, and 18 months. They may be asked to return for a final visit at 24 months. Not all tests will be performed at each visit.
* Treatment will not be provided as part of this protocol.
For more information, visit our website: http://hibmstudy.nhgri.nih.gov/
Who can participate
Age range
4 Years – 80 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. Age 4-80 years, either gender, inclusive.
. Diagnosis of GNE myopathy or GNE-related diseases based upon the identification of GNE gene mutations. Molecular confirmation of the diagnosis will be obtained for all subjects in the study.
. Subjects that are a carrier family member of a patient on the study are eligible to participate.
. Must be able to provide informed consent.
Exclusion criteria
. Psychiatric illness or other diseases that would interfere with the subject s ability to comply with the requirements of this protocol.
. Hepatic laboratory parameters (aspartate aminotransferase \[AST\], alanine aminotransferase \[ALT\]) or renal laboratory parameters (creatinine, blood urea nitrogen \[BUN\]) greater than 3 times the upper limit of normal.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Natural History
Timeframe: Ongiong
Trial details
NCT IDNCT01417533
SponsorNational Human Genome Research Institute (NHGRI)
. Presence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease not related to the primary disease process.